"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC130002 - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 415499	NM_000264.5(PTCH1):c.129C>T (p.Ala43=)	LOC130002133, PTCH1	Single nucleotide variant (synonymous variant +2 more)	Gorlin syndrome +2 more	GLikely benign
Select item 188272	NM_000264.5(PTCH1):c.113G>T (p.Gly38Val)	LOC130002133, PTCH1 (G38V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 701710	NM_000264.5(PTCH1):c.69C>T (p.Ala23=)	LOC130002133, PTCH1	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GLikely benign
Select item 802503	NM_000264.5(PTCH1):c.40GGC[3] (p.Gly17del)	LOC130002133, PTCH1 (G17del)	Microsatellite (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 188284	NM_000264.5(PTCH1):c.40GGC[1] (p.Gly15_Gly17del)	LOC130002133, PTCH1	Microsatellite (inframe_deletion +2 more)	PTCH1-related disorder +3 more	GLikely benign
Select item 188208	NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)	LOC130002133, PTCH1 (R13G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 3049919	NM_000264.5(PTCH1):c.-24GGC[12]	LOC130002133, PTCH1	Microsatellite (5 prime UTR variant +2 more)	PTCH1-related disorder	GLikely benign
Select item 1773993	NM_000264.5(PTCH1):c.-24GGC[11]	LOC130002133, PTCH1	Microsatellite (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 255668	NM_000264.5(PTCH1):c.-24GGC[9]	LOC130002133, PTCH1	Microsatellite (5 prime UTR variant +2 more)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 132684	NM_000264.5(PTCH1):c.-24GGC[8]	LOC130002133, PTCH1	Microsatellite (5 prime UTR variant +2 more)	Gorlin syndrome +4 more	GBenign
Select item 219940	NM_000264.5(PTCH1):c.-24GGC[3]	LOC130002133, PTCH1	Microsatellite (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 215454	NM_000264.5(PTCH1):c.-24GGC[4]	LOC130002133, PTCH1	Microsatellite (5 prime UTR variant +2 more)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 193070	NM_000264.5(PTCH1):c.-24GGC[5]	LOC130002133, PTCH1	Microsatellite (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign